OBM Genetics is an international Open Access journal published quarterly online by LIDSEN Publishing Inc. It accepts papers addressing basic and medical aspects of genetics and epigenetics and also ethical, legal and social issues. Coverage includes clinical, developmental, diagnostic, evolutionary, genomic, mitochondrial, molecular, oncological, population and reproductive aspects. It publishes research articles, reviews, communications and technical notes, etc. There is no restriction on the length of the papers and we encourage scientists to publish their results in as much detail as possible.

Indexing: DOAJ-Directory of Open Access Journals.

Archiving: full-text archived in CLOCKSS.

Rapid publication: manuscripts are undertaken in 8.5 days from acceptance to publication (median values for papers published in this journal in the first half of 2019, 1-2 days of FREE language polishing time is also included in this period).

Current Issue: 2020  Archive: 2019 2018 2017

Special Issue

Genetic Screening

Submission Deadline: July 31, 2017 (Closed) Submit Now

Guest Editors

Joanne Traeger-Synodinos, DPhil (Oxon)

Associate Professor of Genetics, Department of Medical Genetics, School of Medicine, National and Kapodistrian University of Athens, Athens 11527, Greece

Website | E-Mail

Research Interests: medical genetics; molecular genetics; reproductive genetics

François Rousseau, MD, MSc, FRCPC, FCAHS

Full Professor, Department of Medical Biology, Biochemistry and Pathology, Faculty of Medicine, Laval University, Québec, Québec G1L 3L5, Canada

Website | E-Mail

Research Interests: laboratory medicine; evaluative research; population genetics; genetic epidemiology; technology transfer; health systems research

About This Topic

The impact of genetic diseases on health care systems, and society overall, is substantial. Diseases with a genetic component account for an significant proportion of death, morbidity, physical and/or mental handicap and disability, as well as reproductive failure (infertility, miscarriage etc). It is estimated that almost 8% of individuals up to the age of 25 years may be diagnosed with a genetic condition, over 30% of childhood hospital admissions have a disorder that is, at least partly, genetically determined, and the genetic component of many common multifactorial diseases should not be underestimated. 

Genetic screening aims to reduce the prevalence of genetic disorders and/or support decisions and choices with family planning by testing individuals without symptoms nor a family history of a genetic disease. Genetic screening thus involves the systematic and timely detection or exclusion of a hereditary disease, or the predisposition to a genetic disease or to establish if a person or couple carries a condition that could lead to a hereditary disease in offspring.

In this special issue of OBM Genetics, we have selected topics that highlight the progress, the state-of–the-art and future potential of genetic screening, ranging from practical and technological aspects through to social and ethical issues. Overall this issue provides information to promote and support optimal quality in standards of genetic screening in medical practice. 


Open Access Editorial

Introduction to Genetic Screening

Johanne Traeger-Synodinos, François Rousseau
Received: September 6, 2019; Published: September 11, 2019; doi:10.21926/obm.genet.1903094

Open Access Review

Newborn Screening for Genetic Diseases: An Overview of Current and Future Applications

Damien Bouvier, Yves Giguère
Received: July 1, 2019; Published: September 6, 2019; doi:10.21926/obm.genet.1903093

Open Access Original Research

Newborn Screening Programs: Next Generation Ethical and Social Issues

Karine Sénécal, Brigid Unim, Bartha Maria Knoppers
Received: October 19, 2017; Published: August 15, 2018; doi:10.21926/obm.genet.1803027

Open Access Opinion

Moving Towards Routine Non-Invasive Prenatal Testing (NIPT): Challenges Related to Women’s Autonomy

Stanislav Birko , Marie-Eve Lemoine , Minh Thu Nguyen , Vardit Ravitsky
Received: February 10, 2018; Published: April 20, 2018; doi:10.21926/obm.genet.1802018

Open Access Opinion

Responsible Implementation of Expanded Screening Programs for Genetic Diseases at the Beginning of Life

Martina C Cornel
Received: July 13, 2017; Published: February 12, 2018; doi:10.21926/obm.genet.1801013

Open Access Review

Carrier Screening for Cystic Fibrosis: Past, Present and Future

Myrto Poulou, Maria Tzetis
Received: July 31, 2017; Published: November 3, 2017; doi:10.21926/obm.genet.1704010

Open Access Review

Preimplantation Genetic Screening

Karen Sermon
Received: August 11, 2017; Published: October 27, 2017; doi:10.21926/obm.genet.1704009

Open Access Review

Prenatal Screening for Fetal Aneuploidy

Sylvie Langlois, R Douglas Wilson
Received: August 1, 2017; Published: September 27, 2017; doi:10.21926/obm.genet.1703007

Open Access Review

Avoiding the Technological Imperative: Criteria for Genetic Screening Programs

Anne-Marie Laberge, Wylie Burke
Received: July 30, 2017; Published: September 25, 2017; doi:10.21926/obm.genet.1703006

Open Access Review

Carrier Screening for the Haemoglobinopathies: Past, Present and Future

John Old, Cornelis Harteveld
Received: July 3, 2017; Published: August 15, 2017; doi:10.21926/obm.genet.1703005